Immunological Evaluation of Patients with Fanconi Anemia

Abstract

Fanconi anemia (FA) is a progressive bone marrow failure syndrome with multiple congenital anomalies and predisposition to various malignancies. Immune status of these patients has been investigated in a few studies. In our study we prospectively measured serum immunoglobulin (Ig) levels, and lymphocyte subgroup counts in 25 patients with Fanconi anemia. Median age of the patients was 12.5 years (1.5 – 27). Serum IgA and IgM levels were found to be low in 1 out of 25 patients. Lymphocyte subgroups were analyzed in 6 of the patients and two of them were found to have lower natural killer  cell count than their age appropriates. In children with Fanconi anemia, natural killer cell counts are more frequently disturbed as the leading cellular defect while these patients usually have normal Ig levels.

Key words: Fanconi anemia, immune deficiency, natural killer cell